{"id":66287,"date":"2018-03-09T22:54:35","date_gmt":"2018-03-09T22:54:35","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-molecular-del-sa%c2%adndrome-de-sotos-y-estudio-de-otras-causas-geneticas-de-hipercrecimiento\/"},"modified":"2018-03-09T22:54:35","modified_gmt":"2018-03-09T22:54:35","slug":"caracterizacion-molecular-del-sa%c2%adndrome-de-sotos-y-estudio-de-otras-causas-geneticas-de-hipercrecimiento","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/caracterizacion-molecular-del-sa%c2%adndrome-de-sotos-y-estudio-de-otras-causas-geneticas-de-hipercrecimiento\/","title":{"rendered":"Caracterizaci\u00f3n molecular del s\u00edndrome de sotos y estudio de otras causas gen\u00e9ticas de hipercrecimiento"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Jes\u00fas Manuel Del Valle Dom\u00ednguez <\/strong><\/h2>\n<p>En la presente tesis doctoral se ha realizado un estudio de investigaci\u00f3n encaminado a definir los genes responsables que causan hipercrecimiento en humanos, as\u00ed como la identificaci\u00f3n y caracterizaci\u00f3n de las mutaciones de pacientes espa\u00f1oles con s\u00edndromes de hipercrecimiento, con especial atenci\u00f3n a los afectos de s\u00edndrome de sotos. Los resultados obtenidos han permitido definir el espectro mutacional en un considerable n\u00famero de pacientes con s\u00edndrome de sotos, caracterizar en detalle estas mutaciones as\u00ed como muchos polimorfismos intrag\u00e9nicos, en ambos casos, algunos cambios no han sido previamente descritos y otros son recurrentes. Se ha verificado la escasez de microdeleciones en poblaci\u00f3n espa\u00f1ola, como en otros estudios europeos, y en los casos en los que se han identificado, se han caracterizado en detalle el tama\u00f1o y origen parental de las mismas. Se ha corroborado la validez de los criterios cl\u00ednicos como indicaci\u00f3n para estudio molecular. Se han dise\u00f1ado estudios para buscar grandes reordenamientos gen\u00f3micos en pacientes sin mutaci\u00f3n previamente identificada, lleg\u00e1ndose a caracterizar de estar manera varios reordenamientos gen\u00f3micos en pacientes con sobrecremiento.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n molecular del s\u00edndrome de sotos y estudio de otras causas gen\u00e9ticas de hipercrecimiento<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n molecular del s\u00edndrome de sotos y estudio de otras causas gen\u00e9ticas de hipercrecimiento <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Jes\u00fas Manuel Del Valle Dom\u00ednguez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pompeu fabra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 14\/07\/2008<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>jurado P\u00e9rez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: xavier Estivill pallej? <\/li>\n<li>Miguel Urioste azcorra (vocal)<\/li>\n<li>feliciano Jes\u00fas Ramos fuentes (vocal)<\/li>\n<li>c\u00e9lia Badenas orqu\u00edn (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Jes\u00fas Manuel Del Valle Dom\u00ednguez En la presente tesis doctoral se ha realizado un estudio de investigaci\u00f3n [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[35,18712],"tags":[146064,85370,146062,146063,78025,29141],"class_list":["post-66287","post","type-post","status-publish","format-standard","hentry","category-ciencias-de-la-vida","category-pompeu-fabra","tag-celia-badenas-orquin","tag-feliciano-jesus-ramos-fuentes","tag-jesus-manuel-del-valle-dominguez","tag-jurado-perez","tag-miguel-urioste-azcorra","tag-xavier-estivill-pallej"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/66287","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=66287"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/66287\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=66287"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=66287"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=66287"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}